ClinVar Miner

List of variants in gene TBX18 reported as pathogenic for urinary tract obstruction

Included ClinVar conditions (10):

Atrial septal defect; Hydronephrosis; Cerebral atrophy; Large fontanelles; Penile hypospadias; Abnormal nail morphology; Teratoma; Midface retrusion
Atrial septal defect; Hydronephrosis; Pulmonary hypoplasia; Respiratory failure; Abdominal distention; Gastrointestinal obstruction; Respiratory failure requiring assisted ventilation; Intestinal obstruction; Abnormal pulmonary interstitial morphology; Primary microcephaly; Ventricular septal defect
Congenital anomalies of kidney and urinary tract 2
Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate
Epicanthus; Atrial septal defect; Inguinal hernia; Hydronephrosis; Hirsutism; Large earlobe; Abnormal facial shape; Short nose; Single transverse palmar crease; Synophrys; Thin vermilion border; Micropenis; Horseshoe kidney; Entropion; Reduced tendon reflexes; Umbilical hernia; Abnormal nail morphology; Mitral regurgitation; Aortic regurgitation; Capillary hemangioma; 2-3 toe cutaneous syndactyly; Hypotonia; Patent ductus arteriosus
Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Intellectual disability; Renal atrophy; Attention deficit hyperactivity disorder
Hydronephrosis; Myopia; Abnormality of the dentition; Microcephaly; Intellectual disability, severe; Ventricular septal defect
Hydronephrosis; Pulmonary hypoplasia; Hydroureter; Aplasia/hypoplasia involving bones of the lower limbs; Absence of the sacrum; Hypoplastic left heart syndrome
Hydronephrosis; Short nose
Protein-losing enteropathy; Short stature; Fetal growth restriction; Hydronephrosis; Cataract; Eczematoid dermatitis; Immunodeficiency; Neutropenia; Urachal cyst; Thrombocytopenia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr)	rs760905589	0.00001
NM_001080508.3(TBX18):c.487A>G (p.Lys163Glu)	rs797045022	0.00001
NM_001080508.3(TBX18):c.1010del (p.Gly337fs)	rs869320679
NM_001080508.3(TBX18):c.1045C>T (p.Arg349Ter)
NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs)	rs2127879625

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